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Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: [ citation needed ] Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year.
This list is incomplete; you can help by adding missing items. ( May 2016 ) Fetal abnormalities are conditions that affect a fetus or embryo , are able to be diagnosed prenatally, and may be fatal or cause disease after birth.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases.
Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) has been common in some Jewish communities, which produces a small increase in the number of children with congenital defects. [1]
Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1] Hypermethioninemia [1] Citrullinemia type II [1] Inborn errors of organic acid metabolism. Methylmalonic acidemia (Cbl C,D) [1] Malonic acidemia [1] 2-Methyl 3-hydroxy butyric aciduria [1] Isobutyryl-CoA dehydrogenase deficiency [1]